Summary In this study, we report on clinical, radiographic and symptoms. A history of fracture was present in 15 patients biochemical characteristics of 38 patients with adult (39%). Twenty-one patients (55%) complained about recur- hypophosphatasia. High-resolution peripheral quantitative ring headaches, 23 patients (61%) had recurring muscle pain, computed tomography showed alterations of bone microstruc- 4 patients (11%) suffered from severe muscle weakness and ture in a subgroup of 14 patients. Pyridoxal-5-phosphate 18 patients (47%) showed dental abnormalities. Z-scores levels correlated with the occurrence of fractures and the num- assessed by DXA were only slightly reduced in most adult ber of symptoms. HPP patients. HR-pQCT of 14 patients showed microstructur- Introduction Hypophosphatasia (HPP) is a rare disorder with al changes of trabecular and cortical bone compared to refer- a wide range of clinical manifestations. A reduced enzymatic ence values of healthy subjects. The occurrence of fractures activity of alkaline phosphatase (ALP) is the key marker of the and multiple symptoms (>2 typical HPP symptoms) were as- disease, causing an accumulation of ALP substrates such as sociated with significantly elevated levels of PLP. pyridoxal-5-phosphate (PLP). The purpose of this retrospec- Conclusion Adult HPP presents with a wide range of clinical tive
Osteoporosis International – Springer Journals
Published: May 25, 2017
It’s your single place to instantly
discover and read the research
that matters to you.
Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.
All for just $49/month
Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly
Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.
Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.
Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.
All the latest content is available, no embargo periods.
“Hi guys, I cannot tell you how much I love this resource. Incredible. I really believe you've hit the nail on the head with this site in regards to solving the research-purchase issue.”Daniel C.
“Whoa! It’s like Spotify but for academic articles.”@Phil_Robichaud
“I must say, @deepdyve is a fabulous solution to the independent researcher's problem of #access to #information.”@deepthiw
“My last article couldn't be possible without the platform @deepdyve that makes journal papers cheaper.”@JoseServera